scholarly journals Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance

2017 ◽  
Vol 23 (21) ◽  
pp. 6733-6743 ◽  
Author(s):  
Amber E. Bannon ◽  
Jason Kent ◽  
Isaac Forquer ◽  
Ajia Town ◽  
Lillian R. Klug ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Subunit A ◽  
Variants Of Unknown Significance ◽  
Unknown Significance

scholarly journals Functional characterization of variants of unknown significance (VUS) in patients and their responsiveness to targeted therapy drugs (TTD)

2016 ◽  
Vol 27 ◽  
pp. vi403
Author(s):  
G. Tarcic ◽  
C.M. Walko ◽  
H.L. McLeod ◽  
J.K. Hicks ◽  
Z. Barbash ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Functional Characterization ◽  
Variants Of Unknown Significance ◽  
Unknown Significance

scholarly journals Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

2021 ◽  
Vol 9 ◽  
Author(s):  
Malak Alghamdi ◽  
Taghreed R. Alhumsi ◽  
Ikhlass Altweijri ◽  
Waleed H. Alkhamis ◽  
Omar Barasain ◽  
...  
Keyword(s):  
Cranial Sutures ◽  
Saudi Population ◽  
Variants Of Unknown Significance ◽  
Patient Demographics ◽  
Genetic Patterns ◽  
Unknown Significance ◽  
Electronic Chart ◽  
Metopic Suture ◽  
Craniofacial Features

Background: Craniosynostosis (CS) is defined as pre-mature fusion of one or more of the cranial sutures. CS is classified surgically as either simple or complex based on the number of cranial sutures involved. CS can also be classified genetically as isolated CS or syndromic CS if the patient has extracranial deformities. Currently, the link between clinical and genetic patterns of CS in the Saudi population is poorly understood.Methodology: We conducted a retrospective cohort study among 28 CS patients, of which 24 were operated and four were not. Clinical and genetic data were collected between February 2015 and February 2019, from consenting patient's families. The electronic chart data were collected and analyzed including patient demographics, craniofacial features, other anomalies and dysmorphic features, operative data, intra cranial pressure (ICP), parent consanguinity and genetic testing results.Results: The most common deformity in our population was trigonocephaly. The most performed procedure was cranial vault reconstruction with fronto-orbital advancement, followed by posterior vault distraction osteogenesis and suturectomy with barrel staving. Genetics analysis revealed pathogenic mutations in FGFR2 (6 cases), TWIST1 (3 cases), ALPL (2 cases), and TCF12 (2 cases), and FREM1 (2 case).Conclusion: Compared to Western countries, our Saudi cohort displays significant differences in the prevalence of CS features, such as the types of sutures and prevalence of inherited CS. The genomic background allows our phenotype-genotype study to reclassify variants of unknown significance. Worldwide, the sagittal suture is the most commonly affected suture in simple CS, but in the Saudi population, the metopic suture fusion was most commonly seen in our clinic. Further studies are needed to investigate the characteristics of CS in our population in a multicenter setting.

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

2019 ◽  
Vol 157 (3) ◽  
pp. 141-147
Author(s):  
Julie Masson ◽  
Massimiliano Rossi ◽  
Audrey Labalme ◽  
Marianne Till ◽  
Detlef Trost ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Clinical Consequence ◽  
Diagnostic Dilemma ◽  
Variants Of Unknown Significance ◽  
Unknown Significance ◽  
Pathogenic Cnvs ◽  
Standard Karyotype

Chromosomal microarray (CMA) is currently considered as a first-tier test in the genetic assessment of patients presenting with intellectual disability and/or multiple congenital abnormalities. The distinction between pathogenic CNVs, polymorphisms, and variants of unknown significance can be a diagnostic dilemma for cytogeneticists. The size of the CNV has been proposed as a useful criterion. We herein report the characterization of a 13.6-Mb interstitial duplication 20p11.1p12.1, found in a child presenting with mild global developmental delay, by standard karyotype and CMA. Unexpectedly, the same CNV was detected in the patient's mother and pregnant sister, who were healthy. On the basis of these results, an implication of this CNV in the neurological problems observed in the proband was considered to be unlikely. This report underlines the complexity of genetic counseling concerning rare chromosomal abnormalities, when little information is available either in the literature or in international cytogenetic databases.

scholarly journals Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance

2017 ◽  
Vol 10 (5) ◽  
Author(s):  
Bian Li ◽  
Jeffrey L. Mendenhall ◽  
Brett M. Kroncke ◽  
Keenan C. Taylor ◽  
Hui Huang ◽  
...  
Keyword(s):  
Functional Impact ◽  
Variants Of Unknown Significance ◽  
Unknown Significance

scholarly journals Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

2016 ◽  
Vol 18 (1) ◽  
pp. 93-103
Author(s):  
Daniela Alosi ◽  
Marie Bisgaard ◽  
Sophie Hemmingsen ◽  
Lotte Krogh ◽  
Hanne Mikkelsen ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Gene Variants ◽  
Analysis Method ◽  
Variants Of Unknown Significance ◽  
Significance Analysis ◽  
Unknown Significance
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